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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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Accession:DOID:0060177 term browser browse the term
Definition:A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO)
Synonyms:exact_synonym: carnosinase deficiency;   carnosinemia;   homocarnosinase deficiency
 primary_id: MESH:C535328
 alt_id: OMIM:212200;   RDO:0000384
 xref: GARD:2730;   NCI:C125661
For additional species annotation, visit the Alliance of Genome Resources.

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homocarnosinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cndp1 carnosine dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4172777 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          Metabolic Brain Diseases, Inborn 503
            homocarnosinosis 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            amino acid metabolic disorder 432
              gamma-amino butyric acid metabolism disorder 10
                homocarnosinosis 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.